Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.130452210T>CCA590703553ASS1c.-5-14T>C (n.-5-14T>C)
c.110-14T>C (n.110-14T>C)
c.92-14T>C (n.92-14T>C)
 dbSNP gnomAD v2 gnomAD v4
9g.130452210T=CA1881244397ASS1c.-5-14T= (n.-5-14T=)
c.110-14T= (n.110-14T=)
c.92-14T= (n.92-14T=)
9g.130452211C=CA1881244398ASS1c.-5-13C= (n.-5-13C=)
c.110-13C= (n.110-13C=)
c.92-13C= (n.92-13C=)
9g.130452211C>GCA200603425ASS1c.-5-13C>G (n.-5-13C>G)
c.110-13C>G (n.110-13C>G)
c.92-13C>G (n.92-13C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130452211C>TCA860467233ASS1c.-5-13C>T (n.-5-13C>T)
c.110-13C>T (n.110-13C>T)
c.92-13C>T (n.92-13C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.130452212delCA2692119290ASS1c.-5-12del (n.-5-12del)
c.110-12del (n.110-12del)
c.92-12del (n.92-12del)
 gnomAD v4
9g.130452212G>ACA5283115ASS1c.-5-12G>A (n.-5-12G>A)
c.110-12G>A (n.110-12G>A)
c.92-12G>A (n.92-12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452212G=CA1881244399ASS1c.-5-12G= (n.-5-12G=)
c.110-12G= (n.110-12G=)
c.92-12G= (n.92-12G=)
9g.130452212G>TCA2692119295ASS1c.-5-12G>T (n.-5-12G>T)
c.110-12G>T (n.110-12G>T)
c.92-12G>T (n.92-12G>T)
 gnomAD v4
9g.130452213A>GCA2579483307ASS1c.-5-11A>G (n.-5-11A>G)
c.110-11A>G (n.110-11A>G)
c.92-11A>G (n.92-11A>G)
9g.130452213A>TCA2579483306ASS1c.-5-11A>T (n.-5-11A>T)
c.110-11A>T (n.110-11A>T)
c.92-11A>T (n.92-11A>T)
9g.130452214C=CA1881244400ASS1c.-5-10C= (n.-5-10C=)
c.110-10C= (n.110-10C=)
c.92-10C= (n.92-10C=)
9g.130452214C>GCA5283116ASS1c.-5-10C>G (n.-5-10C>G)
c.110-10C>G (n.110-10C>G)
c.92-10C>G (n.92-10C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452216C=CA1881244401ASS1c.-5-8C= (n.-5-8C=)
c.110-8C= (n.110-8C=)
c.92-8C= (n.92-8C=)
9g.130452216C>TCA5283117ASS1c.-5-8C>T (n.-5-8C>T)
c.110-8C>T (n.110-8C>T)
c.92-8C>T (n.92-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452218C=CA1881244402ASS1c.-5-6C= (n.-5-6C=)
c.110-6C= (n.110-6C=)
c.92-6C= (n.92-6C=)
9g.130452218C>TCA5283118ASS1c.-5-6C>T (n.-5-6C>T)
c.110-6C>T (n.110-6C>T)
c.92-6C>T (n.92-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452219G>ACA5283119ASS1c.-5-5G>A (n.-5-5G>A)
c.110-5G>A (n.110-5G>A)
c.92-5G>A (n.92-5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452219G=CA1881244403ASS1c.-5-5G= (n.-5-5G=)
c.110-5G= (n.110-5G=)
c.92-5G= (n.92-5G=)
9g.130452219G>TCA590703554ASS1c.-5-5G>T (n.-5-5G>T)
c.110-5G>T (n.110-5G>T)
c.92-5G>T (n.92-5G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.130452220C=CA1881244404ASS1c.-5-4C= (n.-5-4C=)
c.110-4C= (n.110-4C=)
c.92-4C= (n.92-4C=)
9g.130452220C>TCA590703555ASS1c.-5-4C>T (n.-5-4C>T)
c.110-4C>T (n.110-4C>T)
c.92-4C>T (n.92-4C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.130452222A=CA1881244405ASS1c.-5-2A= (n.-5-2A=)
c.110-2A= (n.110-2A=)
c.92-2A= (n.92-2A=)
9g.130452222A>CCA200603461ASS1c.-5-2A>C (n.-5-2A>C)
c.110-2A>C (n.110-2A>C)
c.92-2A>C (n.92-2A>C)
 dbSNP
9g.130452225C=CA1881244406ASS1c.-4C= (n.-4C=)
c.111C= (p.Asp37=)
c.93C= (p.Asp31=)
9g.130452225C>GCA860467257ASS1c.-4C>G (n.-4C>G)
c.111C>G (p.Asp37Glu)
c.93C>G (p.Asp31Glu)
 dbSNP gnomAD v3 gnomAD v4
9g.130452225C>TCA312353ASS1c.-4C>T (n.-4C>T)
c.111C>T (p.Asp37=)
c.93C>T (p.Asp31=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452226G>ACA590703556ASS1c.-3G>A (n.-3G>A)
c.112G>A (p.Ala38Thr)
c.94G>A (p.Ala32Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.130452226G>CCA2579483308ASS1c.-3G>C (n.-3G>C)
c.112G>C (p.Ala38Pro)
c.94G>C (p.Ala32Pro)
 gnomAD v4
9g.130452226G=CA1881244407ASS1c.-3G= (n.-3G=)
c.112G= (p.Ala38=)
c.94G= (p.Ala32=)
9g.130452226G>TCA5283120ASS1c.-3G>T (n.-3G>T)
c.112G>T (p.Ala38Ser)
c.94G>T (p.Ala32Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452227C=CA1881244408ASS1c.-2C= (n.-2C=)
c.113C= (p.Ala38=)
c.95C= (p.Ala32=)
9g.130452227C>TCA1881244409ASS1c.-2C>T (n.-2C>T)
c.113C>T (p.Ala38Val)
c.95C>T (p.Ala32Val)
 dbSNP gnomAD v4
9g.130452228T>ACA1881244410ASS1c.-1T>A (n.-1T>A)
c.114T>A (p.Ala38=)
c.96T>A (p.Ala32=)
 dbSNP
9g.130452228T=CA1881244411ASS1c.-1T= (n.-1T=)
c.114T= (p.Ala38=)
c.96T= (p.Ala32=)
9g.130452229_130452230delCA2692119326ASS1c.1_2del (p.Met1ValfsTer29)
c.115_116del (p.Met39ValfsTer29)
c.97_98del (p.Met33ValfsTer29)
 gnomAD v4
9g.130452229A=CA1881244412ASS1c.1A= (p.Met1=)
c.115A= (p.Met39=)
c.97A= (p.Met33=)
9g.130452229A>CCA375223454ASS1c.1A>C (p.Met1Leu)
c.115A>C (p.Met39Leu)
c.97A>C (p.Met33Leu)
9g.130452229A>GCA5283121ASS1c.1A>G (p.Met1Val)
c.115A>G (p.Met39Val)
c.97A>G (p.Met33Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452229A>TCA375223455ASS1c.1A>T (p.Met1Leu)
c.115A>T (p.Met39Leu)
c.97A>T (p.Met33Leu)
9g.130452230T>ACA375223456ASS1c.2T>A (p.Met1Lys)
c.116T>A (p.Met39Lys)
c.98T>A (p.Met33Lys)
9g.130452230T>CCA375223457ASS1c.2T>C (p.Met1Thr)
c.116T>C (p.Met39Thr)
c.98T>C (p.Met33Thr)
 dbSNP
9g.130452230T>GCA375223458ASS1c.2T>G (p.Met1Arg)
c.116T>G (p.Met39Arg)
c.98T>G (p.Met33Arg)
9g.130452230T=CA1881244414ASS1c.2T= (p.Met1=)
c.116T= (p.Met39=)
c.98T= (p.Met33=)
9g.130452231G>ACA16041297ASS1c.3G>A (p.Met1Ile)
c.117G>A (p.Met39Ile)
c.99G>A (p.Met33Ile)
 ClinVar dbSNP
9g.130452231G>CCA375223460ASS1c.3G>C (p.Met1Ile)
c.117G>C (p.Met39Ile)
c.99G>C (p.Met33Ile)
9g.130452231G=CA1881244416ASS1c.3G= (p.Met1=)
c.117G= (p.Met39=)
c.99G= (p.Met33=)
9g.130452231G>TCA375223459ASS1c.3G>T (p.Met1Ile)
c.117G>T (p.Met39Ile)
c.99G>T (p.Met33Ile)
9g.130452232T>ACA5283122ASS1c.4T>A (p.Ser2Thr)
c.118T>A (p.Ser40Thr)
c.100T>A (p.Ser34Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452232T>CCA375223462ASS1c.4T>C (p.Ser2Pro)
c.118T>C (p.Ser40Pro)
c.100T>C (p.Ser34Pro)
9g.130452232T>GCA375223461ASS1c.4T>G (p.Ser2Ala)
c.118T>G (p.Ser40Ala)
c.100T>G (p.Ser34Ala)
9g.130452232T=CA1881244417ASS1c.4T= (p.Ser2=)
c.118T= (p.Ser40=)
c.100T= (p.Ser34=)
9g.130452233C>ACA375223463ASS1c.5C>A (p.Ser2Tyr)
c.119C>A (p.Ser40Tyr)
c.101C>A (p.Ser34Tyr)
9g.130452233C>GCA375223465ASS1c.5C>G (p.Ser2Cys)
c.119C>G (p.Ser40Cys)
c.101C>G (p.Ser34Cys)
9g.130452233C>TCA375223464ASS1c.5C>T (p.Ser2Phe)
c.119C>T (p.Ser40Phe)
c.101C>T (p.Ser34Phe)
9g.130452233_130452234delCA2692119341ASS1c.5_6del (p.Ser2Ter)
c.119_120del (p.Ser40Ter)
c.101_102del (p.Ser34Ter)
 gnomAD v4
9g.130452234C>ACA467388102ASS1c.6C>A (p.Ser2=)
c.120C>A (p.Ser40=)
c.102C>A (p.Ser34=)
9g.130452234C>GCA467388103ASS1c.6C>G (p.Ser2=)
c.120C>G (p.Ser40=)
c.102C>G (p.Ser34=)
9g.130452234C>TCA467388104ASS1c.6C>T (p.Ser2=)
c.120C>T (p.Ser40=)
c.102C>T (p.Ser34=)
9g.130452235A>CCA375223466ASS1c.7A>C (p.Ser3Arg)
c.121A>C (p.Ser41Arg)
c.103A>C (p.Ser35Arg)
9g.130452235A>GCA375223467ASS1c.7A>G (p.Ser3Gly)
c.121A>G (p.Ser41Gly)
c.103A>G (p.Ser35Gly)
 gnomAD v4
9g.130452235A>TCA375223468ASS1c.7A>T (p.Ser3Cys)
c.121A>T (p.Ser41Cys)
c.103A>T (p.Ser35Cys)
9g.130452236G>ACA375223469ASS1c.8G>A (p.Ser3Asn)
c.122G>A (p.Ser41Asn)
c.104G>A (p.Ser35Asn)
 ClinVar dbSNP
9g.130452236G>CCA375223470ASS1c.8G>C (p.Ser3Thr)
c.122G>C (p.Ser41Thr)
c.104G>C (p.Ser35Thr)
9g.130452236G=CA1881244418ASS1c.8G= (p.Ser3=)
c.122G= (p.Ser41=)
c.104G= (p.Ser35=)
9g.130452236G>TCA375223471ASS1c.8G>T (p.Ser3Ile)
c.122G>T (p.Ser41Ile)
c.104G>T (p.Ser35Ile)
9g.130452236_130452243delCA2692119348ASS1c.8_15del (p.Ser3IlefsTer25)
c.122_129del (p.Ser41IlefsTer25)
c.104_111del (p.Ser35IlefsTer25)
 gnomAD v4
9g.130452237C>ACA375223472ASS1c.9C>A (p.Ser3Arg)
c.123C>A (p.Ser41Arg)
c.105C>A (p.Ser35Arg)
9g.130452237C>GCA375223473ASS1c.9C>G (p.Ser3Arg)
c.123C>G (p.Ser41Arg)
c.105C>G (p.Ser35Arg)
 gnomAD v4
9g.130452237C>TCA467388107ASS1c.9C>T (p.Ser3=)
c.123C>T (p.Ser41=)
c.105C>T (p.Ser35=)
9g.130452238A>CCA375223474ASS1c.10A>C (p.Lys4Gln)
c.124A>C (p.Lys42Gln)
c.106A>C (p.Lys36Gln)
9g.130452238A>GCA375223475ASS1c.10A>G (p.Lys4Glu)
c.124A>G (p.Lys42Glu)
c.106A>G (p.Lys36Glu)
9g.130452238A>TCA375223476ASS1c.10A>T (p.Lys4Ter)
c.124A>T (p.Lys42Ter)
c.106A>T (p.Lys36Ter)
9g.130452240delCA2692119353ASS1c.12del (p.Gly5AlafsTer20)
c.126del (p.Gly43AlafsTer20)
c.108del (p.Gly37AlafsTer20)
 gnomAD v4
9g.130452239A>CCA375223479ASS1c.11A>C (p.Lys4Thr)
c.125A>C (p.Lys42Thr)
c.107A>C (p.Lys36Thr)
9g.130452239A>GCA375223478ASS1c.11A>G (p.Lys4Arg)
c.125A>G (p.Lys42Arg)
c.107A>G (p.Lys36Arg)
9g.130452239A>TCA375223477ASS1c.11A>T (p.Lys4Ile)
c.125A>T (p.Lys42Ile)
c.107A>T (p.Lys36Ile)
9g.130452240A>CCA375223480ASS1c.12A>C (p.Lys4Asn)
c.126A>C (p.Lys42Asn)
c.108A>C (p.Lys36Asn)
9g.130452240A>GCA467388109ASS1c.12A>G (p.Lys4=)
c.126A>G (p.Lys42=)
c.108A>G (p.Lys36=)
9g.130452240A>TCA375223481ASS1c.12A>T (p.Lys4Asn)
c.126A>T (p.Lys42Asn)
c.108A>T (p.Lys36Asn)
9g.130452241G>ACA375223482ASS1c.13G>A (p.Gly5Ser)
c.127G>A (p.Gly43Ser)
c.109G>A (p.Gly37Ser)
9g.130452241G>CCA375223483ASS1c.13G>C (p.Gly5Arg)
c.127G>C (p.Gly43Arg)
c.109G>C (p.Gly37Arg)
9g.130452241G>TCA375223484ASS1c.13G>T (p.Gly5Cys)
c.127G>T (p.Gly43Cys)
c.109G>T (p.Gly37Cys)
9g.130452242G>ACA375223485ASS1c.14G>A (p.Gly5Asp)
c.128G>A (p.Gly43Asp)
c.110G>A (p.Gly37Asp)
9g.130452242G>CCA312354ASS1c.14G>C (p.Gly5Ala)
c.128G>C (p.Gly43Ala)
c.110G>C (p.Gly37Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452242G=CA1881244420ASS1c.14G= (p.Gly5=)
c.128G= (p.Gly43=)
c.110G= (p.Gly37=)
9g.130452242G>TCA5283123ASS1c.14G>T (p.Gly5Val)
c.128G>T (p.Gly43Val)
c.110G>T (p.Gly37Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452243C>ACA467388111ASS1c.15C>A (p.Gly5=)
c.129C>A (p.Gly43=)
c.111C>A (p.Gly37=)
9g.130452243C>GCA467388112ASS1c.15C>G (p.Gly5=)
c.129C>G (p.Gly43=)
c.111C>G (p.Gly37=)
9g.130452243C>TCA467388113ASS1c.15C>T (p.Gly5=)
c.129C>T (p.Gly43=)
c.111C>T (p.Gly37=)
9g.130452244T>ACA375223486ASS1c.16T>A (p.Ser6Thr)
c.130T>A (p.Ser44Thr)
c.112T>A (p.Ser38Thr)
9g.130452244T>CCA5283125ASS1c.16T>C (p.Ser6Pro)
c.130T>C (p.Ser44Pro)
c.112T>C (p.Ser38Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452244T>GCA5283124ASS1c.16T>G (p.Ser6Ala)
c.130T>G (p.Ser44Ala)
c.112T>G (p.Ser38Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452244T=CA1881244421ASS1c.16T= (p.Ser6=)
c.130T= (p.Ser44=)
c.112T= (p.Ser38=)
9g.130452245C>ACA375223489ASS1c.17C>A (p.Ser6Tyr)
c.131C>A (p.Ser44Tyr)
c.113C>A (p.Ser38Tyr)
9g.130452245C>GCA375223488ASS1c.17C>G (p.Ser6Cys)
c.131C>G (p.Ser44Cys)
c.113C>G (p.Ser38Cys)
9g.130452245C>TCA375223487ASS1c.17C>T (p.Ser6Phe)
c.131C>T (p.Ser44Phe)
c.113C>T (p.Ser38Phe)
 COSMIC
9g.130452246C>ACA467388114ASS1c.18C>A (p.Ser6=)
c.132C>A (p.Ser44=)
c.114C>A (p.Ser38=)
 gnomAD v4
9g.130452246C=CA1881244422ASS1c.18C= (p.Ser6=)
c.132C= (p.Ser44=)
c.114C= (p.Ser38=)
9g.130452246C>GCA467388115ASS1c.18C>G (p.Ser6=)
c.132C>G (p.Ser44=)
c.114C>G (p.Ser38=)
 ClinVar dbSNP
9g.130452246C>TCA5283126ASS1c.18C>T (p.Ser6=)
c.132C>T (p.Ser44=)
c.114C>T (p.Ser38=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452247G>ACA5283127ASS1c.19G>A (p.Val7Met)
c.133G>A (p.Val45Met)
c.115G>A (p.Val39Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452247G>CCA375223490ASS1c.19G>C (p.Val7Leu)
c.133G>C (p.Val45Leu)
c.115G>C (p.Val39Leu)
9g.130452247G=CA1881244424ASS1c.19G= (p.Val7=)
c.133G= (p.Val45=)
c.115G= (p.Val39=)
9g.130452247G>TCA375223491ASS1c.19G>T (p.Val7Leu)
c.133G>T (p.Val45Leu)
c.115G>T (p.Val39Leu)
9g.130452248T>ACA375223492ASS1c.20T>A (p.Val7Glu)
c.134T>A (p.Val45Glu)
c.116T>A (p.Val39Glu)
9g.130452248T>CCA375223493ASS1c.20T>C (p.Val7Ala)
c.134T>C (p.Val45Ala)
c.116T>C (p.Val39Ala)
9g.130452248T>GCA375223494ASS1c.20T>G (p.Val7Gly)
c.134T>G (p.Val45Gly)
c.116T>G (p.Val39Gly)
9g.130452249G>ACA467388119ASS1c.21G>A (p.Val7=)
c.135G>A (p.Val45=)
c.117G>A (p.Val39=)
9g.130452249G>CCA467388120ASS1c.21G>C (p.Val7=)
c.135G>C (p.Val45=)
c.117G>C (p.Val39=)
9g.130452249G>TCA467388121ASS1c.21G>T (p.Val7=)
c.135G>T (p.Val45=)
c.117G>T (p.Val39=)
9g.130452250G>ACA375223495ASS1c.22G>A (p.Val8Ile)
c.136G>A (p.Val46Ile)
c.118G>A (p.Val40Ile)
9g.130452250G>CCA375223496ASS1c.22G>C (p.Val8Leu)
c.136G>C (p.Val46Leu)
c.118G>C (p.Val40Leu)
9g.130452250G=CA1881244426ASS1c.22G= (p.Val8=)
c.136G= (p.Val46=)
c.118G= (p.Val40=)
9g.130452250G>TCA375223497ASS1c.22G>T (p.Val8Phe)
c.136G>T (p.Val46Phe)
c.118G>T (p.Val40Phe)
 dbSNP gnomAD v4
9g.130452251T>ACA375223498ASS1c.23T>A (p.Val8Asp)
c.137T>A (p.Val46Asp)
c.119T>A (p.Val40Asp)
9g.130452251T>CCA375223499ASS1c.23T>C (p.Val8Ala)
c.137T>C (p.Val46Ala)
c.119T>C (p.Val40Ala)
 dbSNP
9g.130452251T>GCA375223500ASS1c.23T>G (p.Val8Gly)
c.137T>G (p.Val46Gly)
c.119T>G (p.Val40Gly)
9g.130452251T=CA1881244430ASS1c.23T= (p.Val8=)
c.137T= (p.Val46=)
c.119T= (p.Val40=)
9g.130452252T>ACA467388124ASS1c.24T>A (p.Val8=)
c.138T>A (p.Val46=)
c.120T>A (p.Val40=)
9g.130452252T>CCA467388125ASS1c.24T>C (p.Val8=)
c.138T>C (p.Val46=)
c.120T>C (p.Val40=)
 dbSNP
9g.130452252T>GCA467388126ASS1c.24T>G (p.Val8=)
c.138T>G (p.Val46=)
c.120T>G (p.Val40=)
9g.130452252T=CA1881244432ASS1c.24T= (p.Val8=)
c.138T= (p.Val46=)
c.120T= (p.Val40=)
9g.130452253C>ACA375223501ASS1c.25C>A (p.Leu9Met)
c.139C>A (p.Leu47Met)
c.121C>A (p.Leu41Met)
9g.130452253C=CA1881244433ASS1c.25C= (p.Leu9=)
c.139C= (p.Leu47=)
c.121C= (p.Leu41=)
9g.130452253C>GCA5283128ASS1c.25C>G (p.Leu9Val)
c.139C>G (p.Leu47Val)
c.121C>G (p.Leu41Val)
 dbSNP ExAC
9g.130452253C>TCA467388128ASS1c.25C>T (p.Leu9=)
c.139C>T (p.Leu47=)
c.121C>T (p.Leu41=)
9g.130452254T>ACA375223502ASS1c.26T>A (p.Leu9Gln)
c.140T>A (p.Leu47Gln)
c.122T>A (p.Leu41Gln)
 gnomAD v4
9g.130452254T>CCA375223503ASS1c.26T>C (p.Leu9Pro)
c.140T>C (p.Leu47Pro)
c.122T>C (p.Leu41Pro)
9g.130452254T>GCA375223504ASS1c.26T>G (p.Leu9Arg)
c.140T>G (p.Leu47Arg)
c.122T>G (p.Leu41Arg)
9g.130452255G>ACA467388130ASS1c.27G>A (p.Leu9=)
c.141G>A (p.Leu47=)
c.123G>A (p.Leu41=)
 gnomAD v4
9g.130452255G>CCA467388131ASS1c.27G>C (p.Leu9=)
c.141G>C (p.Leu47=)
c.123G>C (p.Leu41=)
9g.130452255G>TCA467388129ASS1c.27G>T (p.Leu9=)
c.141G>T (p.Leu47=)
c.123G>T (p.Leu41=)
9g.130452256G>ACA375223505ASS1c.28G>A (p.Ala10Thr)
c.142G>A (p.Ala48Thr)
c.124G>A (p.Ala42Thr)
9g.130452256G>CCA375223506ASS1c.28G>C (p.Ala10Pro)
c.142G>C (p.Ala48Pro)
c.124G>C (p.Ala42Pro)
 ClinVar dbSNP gnomAD v4
9g.130452256G=CA1881244442ASS1c.28G= (p.Ala10=)
c.142G= (p.Ala48=)
c.124G= (p.Ala42=)
9g.130452256G>TCA375223507ASS1c.28G>T (p.Ala10Ser)
c.142G>T (p.Ala48Ser)
c.124G>T (p.Ala42Ser)
9g.130452257C>ACA375223508ASS1c.29C>A (p.Ala10Asp)
c.143C>A (p.Ala48Asp)
c.125C>A (p.Ala42Asp)
 gnomAD v4
9g.130452257C>GCA375223509ASS1c.29C>G (p.Ala10Gly)
c.143C>G (p.Ala48Gly)
c.125C>G (p.Ala42Gly)
9g.130452257C>TCA375223510ASS1c.29C>T (p.Ala10Val)
c.143C>T (p.Ala48Val)
c.125C>T (p.Ala42Val)
9g.130452258C>ACA467388137ASS1c.30C>A (p.Ala10=)
c.144C>A (p.Ala48=)
c.126C>A (p.Ala42=)
9g.130452258C>GCA467388135ASS1c.30C>G (p.Ala10=)
c.144C>G (p.Ala48=)
c.126C>G (p.Ala42=)
9g.130452258C>TCA467388136ASS1c.30C>T (p.Ala10=)
c.144C>T (p.Ala48=)
c.126C>T (p.Ala42=)
9g.130452259T>ACA375223511ASS1c.31T>A (p.Tyr11Asn)
c.145T>A (p.Tyr49Asn)
c.127T>A (p.Tyr43Asn)
9g.130452259T>CCA375223512ASS1c.31T>C (p.Tyr11His)
c.145T>C (p.Tyr49His)
c.127T>C (p.Tyr43His)
9g.130452259T>GCA375223513ASS1c.31T>G (p.Tyr11Asp)
c.145T>G (p.Tyr49Asp)
c.127T>G (p.Tyr43Asp)
9g.130452260A>CCA375223516ASS1c.32A>C (p.Tyr11Ser)
c.146A>C (p.Tyr49Ser)
c.128A>C (p.Tyr43Ser)
9g.130452260A>GCA375223515ASS1c.32A>G (p.Tyr11Cys)
c.146A>G (p.Tyr49Cys)
c.128A>G (p.Tyr43Cys)
9g.130452260A>TCA375223514ASS1c.32A>T (p.Tyr11Phe)
c.146A>T (p.Tyr49Phe)
c.128A>T (p.Tyr43Phe)
9g.130452261C>ACA375223517ASS1c.33C>A (p.Tyr11Ter)
c.147C>A (p.Tyr49Ter)
c.129C>A (p.Tyr43Ter)
9g.130452261C=CA1881244445ASS1c.33C= (p.Tyr11=)
c.147C= (p.Tyr49=)
c.129C= (p.Tyr43=)
9g.130452261C>GCA375223518ASS1c.33C>G (p.Tyr11Ter)
c.147C>G (p.Tyr49Ter)
c.129C>G (p.Tyr43Ter)
 gnomAD v4
9g.130452261C>TCA5283129ASS1c.33C>T (p.Tyr11=)
c.147C>T (p.Tyr49=)
c.129C>T (p.Tyr43=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452262A=CA1881244450ASS1c.34A= (p.Ser12=)
c.148A= (p.Ser50=)
c.130A= (p.Ser44=)
9g.130452262A>CCA375223519ASS1c.34A>C (p.Ser12Arg)
c.148A>C (p.Ser50Arg)
c.130A>C (p.Ser44Arg)
9g.130452262A>GCA375223520ASS1c.34A>G (p.Ser12Gly)
c.148A>G (p.Ser50Gly)
c.130A>G (p.Ser44Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.130452262A>TCA375223521ASS1c.34A>T (p.Ser12Cys)
c.148A>T (p.Ser50Cys)
c.130A>T (p.Ser44Cys)
9g.130452263G>ACA375223524ASS1c.35G>A (p.Ser12Asn)
c.149G>A (p.Ser50Asn)
c.131G>A (p.Ser44Asn)
9g.130452263G>CCA375223522ASS1c.35G>C (p.Ser12Thr)
c.149G>C (p.Ser50Thr)
c.131G>C (p.Ser44Thr)
9g.130452263G>TCA375223523ASS1c.35G>T (p.Ser12Ile)
c.149G>T (p.Ser50Ile)
c.131G>T (p.Ser44Ile)
9g.130452264_130452266dupCA2692119421ASS1c.36_38dup (p.Gly13_Gly14insGly)
c.150_152dup (p.Gly51_Gly52insGly)
c.132_134dup (p.Gly45_Gly46insGly)
 gnomAD v4
9g.130452264T>ACA375223525ASS1c.36T>A (p.Ser12Arg)
c.150T>A (p.Ser50Arg)
c.132T>A (p.Ser44Arg)
9g.130452264T>CCA467388141ASS1c.36T>C (p.Ser12=)
c.150T>C (p.Ser50=)
c.132T>C (p.Ser44=)
9g.130452264T>GCA375223526ASS1c.36T>G (p.Ser12Arg)
c.150T>G (p.Ser50Arg)
c.132T>G (p.Ser44Arg)
9g.130452265G>ACA375223527ASS1c.37G>A (p.Gly13Ser)
c.151G>A (p.Gly51Ser)
c.133G>A (p.Gly45Ser)
9g.130452265G>CCA375223528ASS1c.37G>C (p.Gly13Arg)
c.151G>C (p.Gly51Arg)
c.133G>C (p.Gly45Arg)
9g.130452265G>TCA375223529ASS1c.37G>T (p.Gly13Cys)
c.151G>T (p.Gly51Cys)
c.133G>T (p.Gly45Cys)
9g.130452266G>ACA375223532ASS1c.38G>A (p.Gly13Asp)
c.152G>A (p.Gly51Asp)
c.134G>A (p.Gly45Asp)
9g.130452266G>CCA375223530ASS1c.38G>C (p.Gly13Ala)
c.152G>C (p.Gly51Ala)
c.134G>C (p.Gly45Ala)
9g.130452266G>TCA375223531ASS1c.38G>T (p.Gly13Val)
c.152G>T (p.Gly51Val)
c.134G>T (p.Gly45Val)
9g.130452267C>ACA467388146ASS1c.39C>A (p.Gly13=)
c.153C>A (p.Gly51=)
c.135C>A (p.Gly45=)
 dbSNP gnomAD v2 gnomAD v4
9g.130452267C=CA1881244453ASS1c.39C= (p.Gly13=)
c.153C= (p.Gly51=)
c.135C= (p.Gly45=)
9g.130452267C>GCA467388145ASS1c.39C>G (p.Gly13=)
c.153C>G (p.Gly51=)
c.135C>G (p.Gly45=)
9g.130452267C>TCA5283130ASS1c.39C>T (p.Gly13=)
c.153C>T (p.Gly51=)
c.135C>T (p.Gly45=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130452268G>ACA253829ASS1c.40G>A (p.Gly14Ser)
c.154G>A (p.Gly52Ser)
c.136G>A (p.Gly46Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130452268G>CCA375223534ASS1c.40G>C (p.Gly14Arg)
c.154G>C (p.Gly52Arg)
c.136G>C (p.Gly46Arg)
9g.130452268G=CA1881244456ASS1c.40G= (p.Gly14=)
c.154G= (p.Gly52=)
c.136G= (p.Gly46=)
9g.130452268G>TCA375223535ASS1c.40G>T (p.Gly14Cys)
c.154G>T (p.Gly52Cys)
c.136G>T (p.Gly46Cys)
9g.130452269dupCA375223533ASS1c.41dup (p.Leu15ProfsTer16)
c.155dup (p.Leu53ProfsTer16)
c.137dup (p.Leu47ProfsTer16)
 dbSNP
9g.130452269G>ACA375223536ASS1c.41G>A (p.Gly14Asp)
c.155G>A (p.Gly52Asp)
c.137G>A (p.Gly46Asp)
 dbSNP
9g.130452269G>CCA375223537ASS1c.41G>C (p.Gly14Ala)
c.155G>C (p.Gly52Ala)
c.137G>C (p.Gly46Ala)
9g.130452269G=CA1881244458ASS1c.41G= (p.Gly14=)
c.155G= (p.Gly52=)
c.137G= (p.Gly46=)
9g.130452269G>TCA375223538ASS1c.41G>T (p.Gly14Val)
c.155G>T (p.Gly52Val)
c.137G>T (p.Gly46Val)
9g.130452270C>ACA467388150ASS1c.42C>A (p.Gly14=)
c.156C>A (p.Gly52=)
c.138C>A (p.Gly46=)
 dbSNP gnomAD v3 gnomAD v4
9g.130452270C=CA1881244460ASS1c.42C= (p.Gly14=)
c.156C= (p.Gly52=)
c.138C= (p.Gly46=)
9g.130452270C>GCA467388152ASS1c.42C>G (p.Gly14=)
c.156C>G (p.Gly52=)
c.138C>G (p.Gly46=)
 ClinVar
9g.130452270C>TCA467388153ASS1c.42C>T (p.Gly14=)
c.156C>T (p.Gly52=)
c.138C>T (p.Gly46=)
9g.130452271delCA2692119449ASS1c.43del (p.Leu15TrpfsTer10)
c.157del (p.Leu53TrpfsTer10)
c.139del (p.Leu47TrpfsTer10)
 gnomAD v4
9g.130452271C>ACA375223539ASS1c.43C>A (p.Leu15Met)
c.157C>A (p.Leu53Met)
c.139C>A (p.Leu47Met)
9g.130452271C=CA1881244464ASS1c.43C= (p.Leu15=)
c.157C= (p.Leu53=)
c.139C= (p.Leu47=)
9g.130452271C>GCA375223540ASS1c.43C>G (p.Leu15Val)
c.157C>G (p.Leu53Val)
c.139C>G (p.Leu47Val)
 dbSNP gnomAD v3 gnomAD v4
9g.130452271C>TCA467388154ASS1c.43C>T (p.Leu15=)
c.157C>T (p.Leu53=)
c.139C>T (p.Leu47=)
9g.130452272T>ACA375223541ASS1c.44T>A (p.Leu15Gln)
c.158T>A (p.Leu53Gln)
c.140T>A (p.Leu47Gln)
9g.130452272T>CCA375223542ASS1c.44T>C (p.Leu15Pro)
c.158T>C (p.Leu53Pro)
c.140T>C (p.Leu47Pro)
 gnomAD v4
9g.130452272T>GCA375223543ASS1c.44T>G (p.Leu15Arg)
c.158T>G (p.Leu53Arg)
c.140T>G (p.Leu47Arg)
9g.130452273G>ACA467388155ASS1c.45G>A (p.Leu15=)
c.159G>A (p.Leu53=)
c.141G>A (p.Leu47=)
9g.130452273G>CCA467388156ASS1c.45G>C (p.Leu15=)
c.159G>C (p.Leu53=)
c.141G>C (p.Leu47=)
9g.130452273G>TCA467388157ASS1c.45G>T (p.Leu15=)
c.159G>T (p.Leu53=)
c.141G>T (p.Leu47=)
9g.130452274G>ACA375223544ASS1c.46G>A (p.Asp16Asn)
c.160G>A (p.Asp54Asn)
c.142G>A (p.Asp48Asn)
9g.130452274G>CCA375223546ASS1c.46G>C (p.Asp16His)
c.160G>C (p.Asp54His)
c.142G>C (p.Asp48His)
 dbSNP gnomAD v4
9g.130452274G=CA1881244470ASS1c.46G= (p.Asp16=)
c.160G= (p.Asp54=)
c.142G= (p.Asp48=)
9g.130452274G>TCA375223545ASS1c.46G>T (p.Asp16Tyr)
c.160G>T (p.Asp54Tyr)
c.142G>T (p.Asp48Tyr)
 COSMIC
9g.130452275A=CA1881244474ASS1c.47A= (p.Asp16=)
c.161A= (p.Asp54=)
c.143A= (p.Asp48=)
9g.130452275A>CCA375223547ASS1c.47A>C (p.Asp16Ala)
c.161A>C (p.Asp54Ala)
c.143A>C (p.Asp48Ala)
 gnomAD v4
9g.130452275A>GCA375223548ASS1c.47A>G (p.Asp16Gly)
c.161A>G (p.Asp54Gly)
c.143A>G (p.Asp48Gly)
 dbSNP
9g.130452275A>TCA375223549ASS1c.47A>T (p.Asp16Val)
c.161A>T (p.Asp54Val)
c.143A>T (p.Asp48Val)
9g.130452276C>ACA375223550ASS1c.48C>A (p.Asp16Glu)
c.162C>A (p.Asp54Glu)
c.144C>A (p.Asp48Glu)
9g.130452276C>GCA375223551ASS1c.48C>G (p.Asp16Glu)
c.162C>G (p.Asp54Glu)
c.144C>G (p.Asp48Glu)
9g.130452276C>TCA467388159ASS1c.48C>T (p.Asp16=)
c.162C>T (p.Asp54=)
c.144C>T (p.Asp48=)
9g.130452277A=CA1881244476ASS1c.49A= (p.Thr17=)
c.163A= (p.Thr55=)
c.145A= (p.Thr49=)
9g.130452277A>CCA375223552ASS1c.49A>C (p.Thr17Pro)
c.163A>C (p.Thr55Pro)
c.145A>C (p.Thr49Pro)
9g.130452277A>GCA375223553ASS1c.49A>G (p.Thr17Ala)
c.163A>G (p.Thr55Ala)
c.145A>G (p.Thr49Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.130452277A>TCA375223554ASS1c.49A>T (p.Thr17Ser)
c.163A>T (p.Thr55Ser)
c.145A>T (p.Thr49Ser)
9g.130452278C>ACA375223555ASS1c.50C>A (p.Thr17Asn)
c.164C>A (p.Thr55Asn)
c.146C>A (p.Thr49Asn)
 gnomAD v4
9g.130452278C>GCA375223556ASS1c.50C>G (p.Thr17Ser)
c.164C>G (p.Thr55Ser)
c.146C>G (p.Thr49Ser)
9g.130452278C>TCA375223557ASS1c.50C>T (p.Thr17Ile)
c.164C>T (p.Thr55Ile)
c.146C>T (p.Thr49Ile)
 gnomAD v4
9g.130452279C>ACA467388163ASS1c.51C>A (p.Thr17=)
c.165C>A (p.Thr55=)
c.147C>A (p.Thr49=)
9g.130452279C=CA1881244478ASS1c.51C= (p.Thr17=)
c.165C= (p.Thr55=)
c.147C= (p.Thr49=)
9g.130452279C>GCA467388165ASS1c.51C>G (p.Thr17=)
c.165C>G (p.Thr55=)
c.147C>G (p.Thr49=)
 gnomAD v4
9g.130452279C>TCA200603532ASS1c.51C>T (p.Thr17=)
c.165C>T (p.Thr55=)
c.147C>T (p.Thr49=)
 ClinVar dbSNP gnomAD v4
9g.130452280T>ACA375223560ASS1c.52T>A (p.Ser18Thr)
c.166T>A (p.Ser56Thr)
c.148T>A (p.Ser50Thr)
9g.130452280T>CCA375223559ASS1c.52T>C (p.Ser18Pro)
c.166T>C (p.Ser56Pro)
c.148T>C (p.Ser50Pro)
9g.130452280T>GCA375223558ASS1c.52T>G (p.Ser18Ala)
c.166T>G (p.Ser56Ala)
c.148T>G (p.Ser50Ala)
9g.130452281C>ACA375223561ASS1c.53C>A (p.Ser18Ter)
c.167C>A (p.Ser56Ter)
c.149C>A (p.Ser50Ter)
 gnomAD v4
9g.130452281C=CA1881244483ASS1c.53C= (p.Ser18=)
c.167C= (p.Ser56=)
c.149C= (p.Ser50=)
9g.130452281C>GCA375223562ASS1c.53C>G (p.Ser18Trp)
c.167C>G (p.Ser56Trp)
c.149C>G (p.Ser50Trp)
 gnomAD v4
9g.130452281C>TCA253836ASS1c.53C>T (p.Ser18Leu)
c.167C>T (p.Ser56Leu)
c.149C>T (p.Ser50Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452282G>ACA5283131ASS1c.54G>A (p.Ser18=)
c.168G>A (p.Ser56=)
c.150G>A (p.Ser50=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452282G>CCA467388168ASS1c.54G>C (p.Ser18=)
c.168G>C (p.Ser56=)
c.150G>C (p.Ser50=)
9g.130452282G=CA1881244491ASS1c.54G= (p.Ser18=)
c.168G= (p.Ser56=)
c.150G= (p.Ser50=)
9g.130452282G>TCA467388166ASS1c.54G>T (p.Ser18=)
c.168G>T (p.Ser56=)
c.150G>T (p.Ser50=)
 gnomAD v4
9g.130452283T>ACA375223563ASS1c.55T>A (p.Cys19Ser)
c.169T>A (p.Cys57Ser)
c.151T>A (p.Cys51Ser)
9g.130452283T>CCA375223564ASS1c.55T>C (p.Cys19Arg)
c.169T>C (p.Cys57Arg)
c.151T>C (p.Cys51Arg)
9g.130452283T>GCA375223565ASS1c.55T>G (p.Cys19Gly)
c.169T>G (p.Cys57Gly)
c.151T>G (p.Cys51Gly)
9g.130452283_130452290dupCA2692119486ASS1c.55_62dup (p.Val22AlafsTer6)
c.169_176dup (p.Val60AlafsTer6)
c.151_158dup (p.Val54AlafsTer6)
 gnomAD v4
9g.130452284G>ACA375223566ASS1c.56G>A (p.Cys19Tyr)
c.170G>A (p.Cys57Tyr)
c.152G>A (p.Cys51Tyr)
9g.130452284G>CCA375223567ASS1c.56G>C (p.Cys19Ser)
c.170G>C (p.Cys57Ser)
c.152G>C (p.Cys51Ser)
9g.130452284G>TCA375223568ASS1c.56G>T (p.Cys19Phe)
c.170G>T (p.Cys57Phe)
c.152G>T (p.Cys51Phe)
9g.130452285C>ACA375223569ASS1c.57C>A (p.Cys19Ter)
c.171C>A (p.Cys57Ter)
c.153C>A (p.Cys51Ter)
 ClinVar gnomAD v4
9g.130452285C>GCA375223570ASS1c.57C>G (p.Cys19Trp)
c.171C>G (p.Cys57Trp)
c.153C>G (p.Cys51Trp)
9g.130452285C>TCA467388170ASS1c.57C>T (p.Cys19=)
c.171C>T (p.Cys57=)
c.153C>T (p.Cys51=)
9g.130452286A>CCA375223573ASS1c.58A>C (p.Ile20Leu)
c.172A>C (p.Ile58Leu)
c.154A>C (p.Ile52Leu)
 gnomAD v4
9g.130452286A>GCA375223572ASS1c.58A>G (p.Ile20Val)
c.172A>G (p.Ile58Val)
c.154A>G (p.Ile52Val)
9g.130452286A>TCA375223571ASS1c.58A>T (p.Ile20Phe)
c.172A>T (p.Ile58Phe)
c.154A>T (p.Ile52Phe)
9g.130452287T>ACA375223574ASS1c.59T>A (p.Ile20Asn)
c.173T>A (p.Ile58Asn)
c.155T>A (p.Ile52Asn)
9g.130452287T>CCA375223576ASS1c.59T>C (p.Ile20Thr)
c.173T>C (p.Ile58Thr)
c.155T>C (p.Ile52Thr)
9g.130452287T>GCA375223575ASS1c.59T>G (p.Ile20Ser)
c.173T>G (p.Ile58Ser)
c.155T>G (p.Ile52Ser)
9g.130452288C>ACA467388174ASS1c.60C>A (p.Ile20=)
c.174C>A (p.Ile58=)
c.156C>A (p.Ile52=)
 gnomAD v4
9g.130452288C>GCA375223577ASS1c.60C>G (p.Ile20Met)
c.174C>G (p.Ile58Met)
c.156C>G (p.Ile52Met)
9g.130452288C>TCA467388175ASS1c.60C>T (p.Ile20=)
c.174C>T (p.Ile58=)
c.156C>T (p.Ile52=)
 ClinVar
9g.130452289C>ACA375223579ASS1c.61C>A (p.Leu21Ile)
c.175C>A (p.Leu59Ile)
c.157C>A (p.Leu53Ile)
9g.130452289C=CA1881244495ASS1c.61C= (p.Leu21=)
c.175C= (p.Leu59=)
c.157C= (p.Leu53=)
9g.130452289C>GCA375223578ASS1c.61C>G (p.Leu21Val)
c.175C>G (p.Leu59Val)
c.157C>G (p.Leu53Val)
9g.130452289C>TCA375223580ASS1c.61C>T (p.Leu21Phe)
c.175C>T (p.Leu59Phe)
c.157C>T (p.Leu53Phe)
 dbSNP gnomAD v4
9g.130452290T>ACA375223581ASS1c.62T>A (p.Leu21His)
c.176T>A (p.Leu59His)
c.158T>A (p.Leu53His)
9g.130452290T>CCA375223583ASS1c.62T>C (p.Leu21Pro)
c.176T>C (p.Leu59Pro)
c.158T>C (p.Leu53Pro)
9g.130452290T>GCA375223582ASS1c.62T>G (p.Leu21Arg)
c.176T>G (p.Leu59Arg)
c.158T>G (p.Leu53Arg)
9g.130452291C>ACA467388176ASS1c.63C>A (p.Leu21=)
c.177C>A (p.Leu59=)
c.159C>A (p.Leu53=)
 ClinVar dbSNP
9g.130452291C=CA1881244501ASS1c.63C= (p.Leu21=)
c.177C= (p.Leu59=)
c.159C= (p.Leu53=)
9g.130452291C>GCA5283132ASS1c.63C>G (p.Leu21=)
c.177C>G (p.Leu59=)
c.159C>G (p.Leu53=)
 dbSNP ExAC gnomAD v2
9g.130452291C>TCA16605381ASS1c.63C>T (p.Leu21=)
c.177C>T (p.Leu59=)
c.159C>T (p.Leu53=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130452292G>ACA5283134ASS1c.64G>A (p.Val22Met)
c.178G>A (p.Val60Met)
c.160G>A (p.Val54Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452292G>CCA5283135ASS1c.64G>C (p.Val22Leu)
c.178G>C (p.Val60Leu)
c.160G>C (p.Val54Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452292G=CA1881244512ASS1c.64G= (p.Val22=)
c.178G= (p.Val60=)
c.160G= (p.Val54=)
9g.130452292G>TCA5283133ASS1c.64G>T (p.Val22Leu)
c.178G>T (p.Val60Leu)
c.160G>T (p.Val54Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130452293T>ACA375223584ASS1c.65T>A (p.Val22Glu)
c.179T>A (p.Val60Glu)
c.161T>A (p.Val54Glu)
9g.130452293T>CCA375223585ASS1c.65T>C (p.Val22Ala)
c.179T>C (p.Val60Ala)
c.161T>C (p.Val54Ala)
9g.130452293T>GCA200603554ASS1c.65T>G (p.Val22Gly)
c.179T>G (p.Val60Gly)
c.161T>G (p.Val54Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130452293T=CA1881244518ASS1c.65T= (p.Val22=)
c.179T= (p.Val60=)
c.161T= (p.Val54=)
9g.130452294delCA2580079790ASS1c.66del (p.Trp23GlyfsTer2)
c.180del (p.Trp61GlyfsTer2)
c.162del (p.Trp55GlyfsTer2)
 ClinVar
9g.130452294G>ACA5283136ASS1c.66G>A (p.Val22=)
c.180G>A (p.Val60=)
c.162G>A (p.Val54=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452294G>CCA467388178ASS1c.66G>C (p.Val22=)
c.180G>C (p.Val60=)
c.162G>C (p.Val54=)
9g.130452294G=CA1881244520ASS1c.66G= (p.Val22=)
c.180G= (p.Val60=)
c.162G= (p.Val54=)
9g.130452294G>TCA467388180ASS1c.66G>T (p.Val22=)
c.180G>T (p.Val60=)
c.162G>T (p.Val54=)
9g.130452295T>ACA375223586ASS1c.67T>A (p.Trp23Arg)
c.181T>A (p.Trp61Arg)
c.163T>A (p.Trp55Arg)
9g.130452295T>CCA375223587ASS1c.67T>C (p.Trp23Arg)
c.181T>C (p.Trp61Arg)
c.163T>C (p.Trp55Arg)
9g.130452295T>GCA375223588ASS1c.67T>G (p.Trp23Gly)
c.181T>G (p.Trp61Gly)
c.163T>G (p.Trp55Gly)
9g.130452296G>ACA375223589ASS1c.68G>A (p.Trp23Ter)
c.182G>A (p.Trp61Ter)
c.164G>A (p.Trp55Ter)
9g.130452296G>CCA375223590ASS1c.68G>C (p.Trp23Ser)
c.182G>C (p.Trp61Ser)
c.164G>C (p.Trp55Ser)
9g.130452296G>TCA375223591ASS1c.68G>T (p.Trp23Leu)
c.182G>T (p.Trp61Leu)
c.164G>T (p.Trp55Leu)
9g.130452297G>ACA375223594ASS1c.69G>A (p.Trp23Ter)
c.183G>A (p.Trp61Ter)
c.165G>A (p.Trp55Ter)
 ClinVar dbSNP
9g.130452297G>CCA375223592ASS1c.69G>C (p.Trp23Cys)
c.183G>C (p.Trp61Cys)
c.165G>C (p.Trp55Cys)
9g.130452297G=CA1881244522ASS1c.69G= (p.Trp23=)
c.183G= (p.Trp61=)
c.165G= (p.Trp55=)
9g.130452297G>TCA375223593ASS1c.69G>T (p.Trp23Cys)
c.183G>T (p.Trp61Cys)
c.165G>T (p.Trp55Cys)
 dbSNP
9g.130452298C>ACA375223595ASS1c.70C>A (p.Leu24Met)
c.184C>A (p.Leu62Met)
c.166C>A (p.Leu56Met)
9g.130452298C>GCA375223596ASS1c.70C>G (p.Leu24Val)
c.184C>G (p.Leu62Val)
c.166C>G (p.Leu56Val)
9g.130452298C>TCA467388181ASS1c.70C>T (p.Leu24=)
c.184C>T (p.Leu62=)
c.166C>T (p.Leu56=)
9g.130452299T>ACA375223597ASS1c.71T>A (p.Leu24Gln)
c.185T>A (p.Leu62Gln)
c.167T>A (p.Leu56Gln)
9g.130452299T>CCA375223598ASS1c.71T>C (p.Leu24Pro)
c.185T>C (p.Leu62Pro)
c.167T>C (p.Leu56Pro)
9g.130452299T>GCA375223599ASS1c.71T>G (p.Leu24Arg)
c.185T>G (p.Leu62Arg)
c.167T>G (p.Leu56Arg)
 gnomAD v4
9g.130452300G>ACA467388185ASS1c.72G>A (p.Leu24=)
c.186G>A (p.Leu62=)
c.168G>A (p.Leu56=)
9g.130452300G>CCA467388186ASS1c.72G>C (p.Leu24=)
c.186G>C (p.Leu62=)
c.168G>C (p.Leu56=)
9g.130452300G>TCA467388187ASS1c.72G>T (p.Leu24=)
c.186G>T (p.Leu62=)
c.168G>T (p.Leu56=)
9g.130452301A>CCA375223600ASS1c.73A>C (p.Lys25Gln)
c.187A>C (p.Lys63Gln)
c.169A>C (p.Lys57Gln)
9g.130452301A>GCA375223601ASS1c.73A>G (p.Lys25Glu)
c.187A>G (p.Lys63Glu)
c.169A>G (p.Lys57Glu)
9g.130452301A>TCA375223602ASS1c.73A>T (p.Lys25Ter)
c.187A>T (p.Lys63Ter)
c.169A>T (p.Lys57Ter)
9g.130452302A>CCA375223603ASS1c.74A>C (p.Lys25Thr)
c.188A>C (p.Lys63Thr)
c.170A>C (p.Lys57Thr)
9g.130452302A>GCA375223604ASS1c.74A>G (p.Lys25Arg)
c.188A>G (p.Lys63Arg)
c.170A>G (p.Lys57Arg)
9g.130452302A>TCA375223605ASS1c.74A>T (p.Lys25Met)
c.188A>T (p.Lys63Met)
c.170A>T (p.Lys57Met)
9g.130452303G>ACA467388191ASS1c.75G>A (p.Lys25=)
c.189G>A (p.Lys63=)
c.171G>A (p.Lys57=)
 dbSNP gnomAD v4
9g.130452303G>CCA375223607ASS1c.75G>C (p.Lys25Asn)
c.189G>C (p.Lys63Asn)
c.171G>C (p.Lys57Asn)
9g.130452303G=CA1881244524ASS1c.75G= (p.Lys25=)
c.189G= (p.Lys63=)
c.171G= (p.Lys57=)
9g.130452303G>TCA375223606ASS1c.75G>T (p.Lys25Asn)
c.189G>T (p.Lys63Asn)
c.171G>T (p.Lys57Asn)
9g.130452304G>ACA5283137ASS1c.76G>A (p.Glu26Lys)
c.190G>A (p.Glu64Lys)
c.172G>A (p.Glu58Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452304G>CCA375223608ASS1c.76G>C (p.Glu26Gln)
c.190G>C (p.Glu64Gln)
c.172G>C (p.Glu58Gln)
9g.130452304G=CA1881244526ASS1c.76G= (p.Glu26=)
c.190G= (p.Glu64=)
c.172G= (p.Glu58=)
9g.130452304G>TCA375223609ASS1c.76G>T (p.Glu26Ter)
c.190G>T (p.Glu64Ter)
c.172G>T (p.Glu58Ter)
9g.130452305A>CCA375223610ASS1c.77A>C (p.Glu26Ala)
c.191A>C (p.Glu64Ala)
c.173A>C (p.Glu58Ala)
9g.130452305A>GCA375223611ASS1c.77A>G (p.Glu26Gly)
c.191A>G (p.Glu64Gly)
c.173A>G (p.Glu58Gly)
9g.130452305A>TCA375223612ASS1c.77A>T (p.Glu26Val)
c.191A>T (p.Glu64Val)
c.173A>T (p.Glu58Val)
9g.130452306A>CCA375223613ASS1c.78A>C (p.Glu26Asp)
c.192A>C (p.Glu64Asp)
c.174A>C (p.Glu58Asp)
9g.130452306A>GCA467388193ASS1c.78A>G (p.Glu26=)
c.192A>G (p.Glu64=)
c.174A>G (p.Glu58=)
9g.130452306A>TCA375223614ASS1c.78A>T (p.Glu26Asp)
c.192A>T (p.Glu64Asp)
c.174A>T (p.Glu58Asp)
9g.130452307C>ACA5283138ASS1c.79C>A (p.Gln27Lys)
c.193C>A (p.Gln65Lys)
c.175C>A (p.Gln59Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452307C=CA1881244529ASS1c.79C= (p.Gln27=)
c.193C= (p.Gln65=)
c.175C= (p.Gln59=)
9g.130452307C>GCA375223615ASS1c.79C>G (p.Gln27Glu)
c.193C>G (p.Gln65Glu)
c.175C>G (p.Gln59Glu)
9g.130452307C>TCA375223616ASS1c.79C>T (p.Gln27Ter)
c.193C>T (p.Gln65Ter)
c.175C>T (p.Gln59Ter)
 gnomAD v4
9g.130452308A>CCA375223617ASS1c.80A>C (p.Gln27Pro)
c.194A>C (p.Gln65Pro)
c.176A>C (p.Gln59Pro)
9g.130452308A>GCA375223618ASS1c.80A>G (p.Gln27Arg)
c.194A>G (p.Gln65Arg)
c.176A>G (p.Gln59Arg)
9g.130452308A>TCA375223619ASS1c.80A>T (p.Gln27Leu)
c.194A>T (p.Gln65Leu)
c.176A>T (p.Gln59Leu)
9g.130452309A>CCA375223620ASS1c.81A>C (p.Gln27His)
c.195A>C (p.Gln65His)
c.177A>C (p.Gln59His)
9g.130452309A>GCA467388195ASS1c.81A>G (p.Gln27=)
c.195A>G (p.Gln65=)
c.177A>G (p.Gln59=)
 gnomAD v3 gnomAD v4
9g.130452309A>TCA375223621ASS1c.81A>T (p.Gln27His)
c.195A>T (p.Gln65His)
c.177A>T (p.Gln59His)
9g.130452310G>ACA375223622ASS1c.82G>A (p.Gly28Ser)
c.196G>A (p.Gly66Ser)
c.178G>A (p.Gly60Ser)
9g.130452310G>CCA375223623ASS1c.82G>C (p.Gly28Arg)
c.196G>C (p.Gly66Arg)
c.178G>C (p.Gly60Arg)
9g.130452310G>TCA375223624ASS1c.82G>T (p.Gly28Cys)
c.196G>T (p.Gly66Cys)
c.178G>T (p.Gly60Cys)

Number of alleles fetched